06096825

a

06096825 Lopes, Pedro Lu{\'\i}s Oliveira, Jos\'e A holistic approach for integrating genomic variation information. Freitas, Ana T. (ed.) et al., Bioinformatics for personalized medicine. 10th Spanish symposium, JBI 2010, Torremolinos, Spain, October 27--29, 2010. Revised selected papers. Berlin: Springer (ISBN 978-3-642-28061-0/pbk). Lecture Notes in Computer Science 6620. Lecture Notes in Bioinformatics, 42-49 (2012). 2012 Berlin: Springer EN LSDB human variome human genetics bioinformatics data integration

doi:10.1007/978-3-642-28062-7_5

Summary: Personalized medicine is strongly tied with human variome research: understanding the impact of specific genetic sequence mutations on observable human traits will play a key role in the quest for custom drugs therapies and improved patient care. Recent growth in this particular field leveraged the appearance of locus-specific databases (LSDBs). Although these systems are praised in the scientific community, they lack some features that can promote a more widespread usage. Existing systems are closed, independent and designed solely for gene curators. In this paper we present a new approach based on a holistic perspective of the genomic variation field, envisaging the integration of LSDBs, genes and variants, as well as a broad set of related resources in an innovative workspace. A prototype implementation for this approach is deployed online at \url{http://bioinformatics.ua.pt/WAVe}.